GM20735史密斯-马吉尼斯综合症；短信 |视黄酸诱导基因1； RAI1 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM20735 SMITH-MAGENIS SYNDROME; SMS | RETINOIC ACID-INDUCED GENE 1; RAI1 B-Lymphocyte Cell Line
史密斯-马吉尼斯综合症；短信 |视黄酸诱导基因1； RAI1细胞株
Description描述：Clinically affected; born at 42 weeks gestation; birth weight = 4.1 kg; behavior problems noted at age 9 months with explosive tantrums; frequent irritability with sleep disturbance in infancy; microcephaly diagnosed as an infant (head circumference < 5th percentile) but head growth gradually improved to normal range; height and weight remained at 25th percentile throughout early childhood with gradual increases over time; sat at age 6 months; walked at age 12 months; speech was delayed and regressed at age 4 years with onset of seizures; seizures were complex and involved grand mal, Jacksonian, and petit mal episodes; language, psychosocial, motor, and cognitive skills below the 7th percentile; IQ = 57 on Wechsler scale; self-hugging; attention seeking; head banging; twirling of objects; onychotillomania; polyembolokoilamania of rectum, umbilicus, ears, and mouth; no abnormal sleep patterns at age 11 years (but sedated as a component of seizure therapy); at age 11 years, height and weight about 75th percentile and head circumference at 50th percentile; flat occiput and round face (like mother's); no midface hypoplasia; full lips with tenting of upper lip; multiple small, nonpigmented papillae on tongue; two 2x3 cm cafe-au-lait spots on trunk; eczema behind ears; brachycephaly; no synophrys; brachydactyly; hoarse, deep voice; no recurrent ear infections; hypotonia; no myopia, strabismus, or iris abnormalities; no structural cardiovascular or renal anomalies; EEG showed 2.5-5 Hz delta activity with medium to high amplitude spikes, sharps and polyspikes seen over the right central parietal, right occipital and bifrontal regions; MRI showed slight asymmetry in the gyral sulcation pattern along the left posterior frontal lobe in the precentral gyrus; normal karyotype; no evidence of 17p11.2 deletion; donor subject has a de novo A>G transition at nucleotide 4685 in exon 3 of the RAI1 gene [4685A>G] resulting in a substitution of arginine for glutamine at codon 1562 [Gln1562Arg (Q1562R)].
Category分类：B-Lymphocyte
ID编号:NTCC®-GM20735
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:11 YR
Gender性别:Female
Cell Type细胞类型: SMITH-MAGENIS SYNDROME; SMS | RETINOIC ACID-INDUCED GENE 1; RAI1
Affected State:Yes
Product:LCL
Gene:RAI
Mutations突变:GLN1562ARG
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XX.ish 17p13.3(LISIX2),17p11.2(FLIX2)
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net